U.S. flag

An official website of the United States government

Format
Items per page
Sort by
Choose Destination

Search results

Items: 24

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
MIR636, MIR6516
+1033 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+1013 more
Copy number gain
See cases
GPathogenic
CDK3, TEN1-CDK3
(L76I)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(Y107C)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(L108V)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(R126Q)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(V154M)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(T181N)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
CDK3, TEN1-CDK3
(Q265E)
Single nucleotide variant
(non-coding transcript variant +1 more)
not specified
GUncertain significance
ACOX1, CASKIN2
+24 more
Copy number gain
not provided
GUncertain significance
ACOX1, ARMC7
+52 more
Copy number gain
7q11.23 microduplication syndrome
GPathogenic
SLC26A11, SLC38A10
+146 more
Copy number gain
not provided
GPathogenic
AANAT, ACOX1
+84 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+226 more
Copy number gain
not provided
GPathogenic
LLGL2, MAP2K6
+119 more
Copy number gain
not provided
GLikely pathogenic
CASKIN2, CDK3
+21 more
Copy number gain
not provided
GUncertain significance
AANAT, AATK
+222 more
Copy number gain
not provided
GPathogenic
AANAT, AATK
+202 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+128 more
Copy number gain
See cases
GPathogenic
AANAT, CDK3
+25 more
Copy number gain
See cases
GUncertain significance
EFTUD2, EIF1
+1143 more
Copy number gain
See cases
GPathogenic
KRT15, KRT16
+1143 more
Copy number gain
See cases
GPathogenic
AANAT, AATK
+458 more
Copy number gain
See cases
GPathogenic
SRP68, TRIM65
+12 more
Copy number gain
See cases
GUncertain significance
Format
Items per page
Sort by
Choose Destination